Variant report

Variant	rs12128484
Chromosome Location	chr1:95112946-95112947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95098692..95101011-chr1:95110470..95114437,3	K562	blood:
2	chr1:95083696..95086099-chr1:95111956..95113779,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1245481	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12738550	1.00[YRI][hapmap]
rs17403082	1.00[YRI][hapmap]
rs17411572	1.00[YRI][hapmap]
rs1778194	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6694645	0.84[AFR][1000 genomes]
rs72729587	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv519997	chr1:95083836-95113417	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3363974	chr1:95112907-95113140	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95106800-95114200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:95108000-95114200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:95108200-95113200	Weak transcription	Colonic Mucosa	Colon
4	chr1:95108400-95119000	Weak transcription	Right Ventricle	heart
5	chr1:95108600-95113200	Weak transcription	Stomach Mucosa	stomach
6	chr1:95108800-95113000	Weak transcription	Fetal Heart	heart
7	chr1:95109200-95114800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:95109200-95114800	Enhancers	HSMM	muscle
9	chr1:95109400-95114200	Enhancers	NHEK	skin
10	chr1:95109600-95113200	Weak transcription	Ovary	ovary
11	chr1:95109600-95114000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:95109600-95114200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:95109800-95114200	Enhancers	HMEC	breast
14	chr1:95109800-95119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:95110400-95114200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:95110600-95113200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:95110600-95113200	Weak transcription	Pancreas	Pancrea
18	chr1:95110600-95115000	Enhancers	NH-A	brain
19	chr1:95110600-95118800	Weak transcription	Fetal Intestine Large	intestine
20	chr1:95110600-95119000	Weak transcription	Fetal Intestine Small	intestine
21	chr1:95110800-95114200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:95110800-95115400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:95111600-95113200	Enhancers	NHLF	lung
24	chr1:95111600-95114600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:95111800-95113600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:95111800-95114600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:95111800-95114600	Enhancers	NHDF-Ad	bronchial
28	chr1:95111800-95114800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:95112000-95113800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:95112000-95114600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:95112000-95114800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:95112200-95119400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:95112400-95113400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:95112400-95113400	Weak transcription	Small Intestine	intestine
35	chr1:95112400-95114000	Enhancers	Hela-S3	cervix
36	chr1:95112400-95114600	Enhancers	Osteobl	bone
37	chr1:95112600-95113000	Weak transcription	HSMMtube	muscle
38	chr1:95112600-95113400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:95112600-95119000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:95112600-95119000	Weak transcription	Placenta	Placenta
41	chr1:95112800-95113000	Enhancers	Lung	lung

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